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#620784 - NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY; NEDOA
Gene summaries Genetic tests Medical literature
#620783 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115; DEE115
*620758 - TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23B; TIMM23B
#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
*620702 - MITOCHONDRIAL CALCIUM UNIPORTER, DOMINANT-NEGATIVE SUBUNIT BETA; MCUB
#620687 - MOYAMOYA DISEASE 7; MYMY7
#620632 - IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION; IMD115
*620631 - ENDOPLASMIC RETICULUM MEMBRANE PROTEIN COMPLEX, SUBUNIT 7; EMC7
#620609 - LONG-OLSEN-DISTELMAIER SYNDROME; LNGODS
#620601 - GARG-MISHRA PROGEROID SYNDROME; GMPGS
Cytogenetic locations: Etv1
#620569 - LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2; LHONAR2
Cytogenetic locations: 606841
#620537 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112; DEE112
Cytogenetic locations: 609640
#620502 - NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES; NEDLC
Cytogenetic locations: ##V###
#620482 - PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT; PARK25
#620465 - EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO3
Cytogenetic locations: 16p13.3
#620454 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa; CDG2AA
*620437 - TRANSMEMBRANE p24 TRAFFICKING PROTEIN 3; TMED3
Cytogenetic locations: #########At#
#620427 - DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS; DYT37
Cytogenetic locations: apparently
#620417 - SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE; SPG90B
Cytogenetic locations: BCL2-like
#620416 - SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT; SPG90A
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